人 ALDH4A1 (NM_170726) cDNA克隆

Accession: NM_170726
基因名称: ALDH4A1
基因别名: P5CD; ALDH4; P5CDh
基因描述: Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), transcript variant P5CDhS, mRNA.
种属: Human
CDS区长度: 1692 (查看编码区序列)
翻译后氨基酸长度: 563 (查看氨基酸序列)
Transcript Variant: This variant (P5CDhS) differs in the 3' UTR compared to variant P5CDhL. Both variants P5CDhL and P5CDhS encode the same protein (isoform a).
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G107005 人 ALDH4A1 (NM_170726) cDNA克隆 pDONR223 2ug质粒 点击询价

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]